Visualize Submit Comment

Metadata
ID	DOID:0060272
Name	pontocerebellar hypoplasia type 3
Definition	A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene. https://www.omim.org/entry/608027
Xrefs	GARD:10708 MESH:C548072 OMIM:608027 ORDO:97249 SNOMEDCT_US_2023_03_01:718609003 UMLS_CUI:C1842687
Subsets	DO_rare_slim
Parent Relationships	is_a pontocerebellar hypoplasia